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Page 1
Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion".
De la Casa-Fages B, Fernández-Eulate G, Gamez J, Barahona-Hernando R, Morís G, García-Barcina M, Infante J, Zulaica M, Fernández-Pelayo U, Muñoz-Oreja M, Urtasun M, Olaskoaga A, Zelaya V, Jericó I, Saez-Villaverde R, Catalina I, Sola E, Martínez-Sáez E, Pujol A, Ruiz M, Schlüter A, Spinazzola A, Muñoz-Blanco JL, Grandas F, Holt I, Álvarez V, López de Munaín A. De la Casa-Fages B, et al. Among authors: lopez de munain a. Mov Disord. 2019 Dec;34(12):1932-1933. doi: 10.1002/mds.27899. Mov Disord. 2019. PMID: 31845766 No abstract available.
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
Alvarez V, Sánchez-Ferrero E, Beetz C, Díaz M, Alonso B, Corao AI, Gámez J, Esteban J, Gonzalo JF, Pascual-Pascual SI, López de Munain A, Moris G, Ribacoba R, Márquez C, Rosell J, Marín R, García-Barcina MJ, Del Castillo E, Benito C, Coto E; Group for the Study of the Genetics of Spastic Paraplegia. Alvarez V, et al. Among authors: lopez de munain a. BMC Neurol. 2010 Oct 8;10:89. doi: 10.1186/1471-2377-10-89. BMC Neurol. 2010. PMID: 20932283 Free PMC article.
Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia.
Sánchez-Ferrero E, Coto E, Corao AI, Díaz M, Gámez J, Esteban J, Gonzalo JF, Pascual-Pascual SI, López De Munaín A, Morís G, Infante J, Del Castillo E, Márquez C, Alvarez V. Sánchez-Ferrero E, et al. Among authors: lopez de munain a. J Neurol. 2012 Feb;259(2):246-50. doi: 10.1007/s00415-011-6155-1. Epub 2011 Jul 2. J Neurol. 2012. PMID: 21725714
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.
García-Redondo A, Dols-Icardo O, Rojas-García R, Esteban-Pérez J, Cordero-Vázquez P, Muñoz-Blanco JL, Catalina I, González-Muñoz M, Varona L, Sarasola E, Povedano M, Sevilla T, Guerrero A, Pardo J, López de Munain A, Márquez-Infante C, de Rivera FJ, Pastor P, Jericó I, de Arcaya AÁ, Mora JS, Clarimón J; C9ORF72 Spanish Study Group; Gonzalo-Martínez JF, Juárez-Rufián A, Atencia G, Jiménez-Bautista R, Morán Y, Mascías J, Hernández-Barral M, Kapetanovic S, García-Barcina M, Alcalá C, Vela A, Ramírez-Ramos C, Galán L, Pérez-Tur J, Quintáns B, Sobrido MJ, Fernández-Torrón R, Poza JJ, Gorostidi A, Paradas C, Villoslada P, Larrodé P, Capablo JL, Pascual-Calvet J, Goñi M, Morgado Y, Guitart M, Moreno-Laguna S, Rueda A, Martín-Estefanía C, Cemillán C, Blesa R, Lleó A. García-Redondo A, et al. Among authors: lopez de munain a, de arcaya aa, de rivera fj. Hum Mutat. 2013 Jan;34(1):79-82. doi: 10.1002/humu.22211. Epub 2012 Oct 11. Hum Mutat. 2013. PMID: 22936364
Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.
Dols-Icardo O, Nebot I, Gorostidi A, Ortega-Cubero S, Hernández I, Rojas-García R, García-Redondo A, Povedano M, Lladó A, Álvarez V, Sánchez-Juan P, Pardo J, Jericó I, Vázquez-Costa J, Sevilla T, Cardona F, Indakoechea B, Moreno F, Fernández-Torrón R, Muñoz-Llahuna L, Moreno-Grau S, Rosende-Roca M, Vela Á, Muñoz-Blanco JL, Combarros O, Coto E, Alcolea D, Fortea J, Lleó A, Sánchez-Valle R, Esteban-Pérez J, Ruiz A, Pastor P, López De Munain A, Pérez-Tur J, Clarimón J; Dementia Genetics Spanish Consortium (DEGESCO). Dols-Icardo O, et al. Among authors: lopez de munain a. Brain. 2015 Dec;138(Pt 12):e400. doi: 10.1093/brain/awv175. Epub 2015 Jul 7. Brain. 2015. PMID: 26152333 Free article. No abstract available.
ALS: A bucket of genes, environment, metabolism and unknown ingredients.
Zufiría M, Gil-Bea FJ, Fernández-Torrón R, Poza JJ, Muñoz-Blanco JL, Rojas-García R, Riancho J, López de Munain A. Zufiría M, et al. Among authors: lopez de munain a. Prog Neurobiol. 2016 Jul;142:104-129. doi: 10.1016/j.pneurobio.2016.05.004. Epub 2016 May 26. Prog Neurobiol. 2016. PMID: 27236050 Review.
The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics.
Moreno F, Indakoetxea B, Barandiaran M, Caballero MC, Gorostidi A, Calafell F, Gabilondo A, Tainta M, Zulaica M, Martí Massó JF, López de Munain A, Sánchez-Juan P, Lee SE. Moreno F, et al. Among authors: lopez de munain a. PLoS One. 2017 Jun 8;12(6):e0178093. doi: 10.1371/journal.pone.0178093. eCollection 2017. PLoS One. 2017. PMID: 28594853 Free PMC article.
Blood Markers in Healthy-Aged Nonagenarians: A Combination of High Telomere Length and Low Amyloidβ Are Strongly Associated With Healthy Aging in the Oldest Old.
Fernández-Eulate G, Alberro A, Muñoz-Culla M, Zulaica M, Zufiría M, Barandiarán M, Etxeberria I, Yanguas JJ, Gallardo MM, Soberón N, Lacosta AM, Pérez-Grijalba V, Canudas J, Fandos N, Pesini P, Sarasa M, Indakoetxea B, Moreno F, Vergara I, Otaegui D, Blasco M, López de Munain A. Fernández-Eulate G, et al. Among authors: lopez de munain a. Front Aging Neurosci. 2018 Nov 28;10:380. doi: 10.3389/fnagi.2018.00380. eCollection 2018. Front Aging Neurosci. 2018. PMID: 30546303 Free PMC article.
367 results